Property Summary

NCBI Gene PubMed Count 63
PubMed Score 678.22
PubTator Score 161.99

Knowledge Summary


No data available


  Disease Sources (5)

Disease Target Count
Hidradenitis suppurativa, familial 3
Disease Target Count P-value
diabetes mellitus 1663 0.0114750268887282
Disease Target Count Z-score Confidence
Hidradenitis suppurativa 12 4.364 2.2
Disease Target Count
Acne inversa, familial, 2 1


Accession Q9NZ42 B2R5L9
Symbols PEN2



5A63   5FN2   5FN3   5FN4   5FN5  

  Ortholog (11)

Species Source
Chimp OMA EggNOG
Mouse OMA EggNOG Inparanoid
Rat OMA Inparanoid
Dog OMA EggNOG Inparanoid
Horse OMA EggNOG
Cow OMA EggNOG Inparanoid
Opossum OMA EggNOG
Anole lizard OMA EggNOG
Xenopus OMA EggNOG Inparanoid
Zebrafish OMA EggNOG Inparanoid
C. elegans OMA EggNOG

 MGI Term (1)

Gene RIF (49)

26581893 TRPC6 specifically interacts with APP leading to inhibition of its cleavage by gamma-secretase and reduction in Abeta production.
26559975 secondary mutations in presenilin 1 alone activated the gamma-secretase activity.
26481686 Data indicate that familial Alzheimer's disease (FAD) and control brain samples had similar overall gamma-secretase activity levels, and therefore, loss of overall (endopeptidase) gamma-secretase function cannot be an essential part of the pathogenic mechanism.
26402014 Results suggest deltaOR-Phe27Cys variation modulates beta- and gamma-secretase activity in late-stage Alzheimer's disease likely via post-translational mechanisms
26296997 The first hydrophobic domain of Pen-2 forms a structure similar to a reentrant loop while the second hydrophobic domain spans the lipid bilayer.
26094765 SLC2A13 is a novel gamma-secretase associated protein that regulates amyloid beta production without affecting Notch cleavage.
26067312 Tumor necrosis factor-alpha and interleukin-10 levels were elevated in acne inversa patients with nicastrin or presenilin enhancer mutation.
26065893 shedding of BCMA by gamma-secretase controls plasma cells in the bone marrow and yields a potential biomarker for B-cell involvement in human autoimmune diseases
26044244 We for the first time identify PEN-2 as the causative gene of familial comedones.
26025363 A complete inhibition of PS1-induced apoptosis was achieved by knockdown of PS1-associated protein (PSAP), a mitochondrial proapoptotic protein that forms a complex with Bax upon induction of apoptosis, in the presence of gamma-secretase inhibitor.

AA Sequence

LTSWITIFQIYRPRWGALGDYLSFTIPLGTP                                            71 - 101

Text Mined References (64)

PMID Year Title
26581893 2015 TRPC6 specifically interacts with APP to inhibit its cleavage by ?-secretase and reduce A? production.
26559975 2016 Suppressor Mutations for Presenilin 1 Familial Alzheimer Disease Mutants Modulate ?-Secretase Activities.
26481686 2015 Qualitative changes in human ?-secretase underlie familial Alzheimer's disease.
26402014 2015 Genetic Variation in ?-Opioid Receptor Associates with Increased ?- and ?-Secretase Activity in the Late Stages of Alzheimer's Disease.
26296997 2015 The topology of pen-2, a ?-secretase subunit, revisited: evidence for a reentrant loop and a single pass transmembrane domain.
26094765 2015 Proton myo-inositol cotransporter is a novel ?-secretase associated protein that regulates A? production without affecting Notch cleavage.
26067312 2015 ?-Secretase Mutation and Consequently Immune Reaction Involved in Pathogenesis of Acne Inversa.
26065893 2015 ?-Secretase directly sheds the survival receptor BCMA from plasma cells.
26044244 2015 A Frameshift Mutation in PEN-2 Causes Familial Comedones Syndrome.
26025363 2015 Cellular FLICE-like Inhibitory Protein (c-FLIP) and PS1-associated Protein (PSAP) Mediate Presenilin 1-induced ?-Secretase-dependent and -independent Apoptosis, Respectively.